Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02630:Pdia6'

301250

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pdia6

Ensembl Gene

ENSMUSG00000020571

Gene Name

protein disulfide isomerase associated 6

Synonyms

CaBP5, Txndc7, 1700015E05Rik, P5

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02630

Quality Score

Status

Chromosome

Chromosomal Location

17316590-17334786 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 17324422 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 91 (H91R)

Ref Sequence

ENSEMBL: ENSMUSP00000052912 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057288]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000057288
AA Change: H91R

PolyPhen 2 Score 0.452 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000052912
Gene: ENSMUSG00000020571
AA Change: H91R

Domain	Start	End	E-Value	Type
Pfam:Thioredoxin	31	134	5.6e-32	PFAM
low complexity region	143	159	N/A	INTRINSIC
Pfam:Thioredoxin	166	272	7.4e-33	PFAM
low complexity region	427	445	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159434

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161853

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162936

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000163000

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the disulfide isomerase (PDI) family of endoplasmic reticulum (ER) proteins that catalyze protein folding and thiol-disulfide interchange reactions. The encoded protein has an N-terminal ER-signal sequence, two catalytically active thioredoxin (TRX) domains, a TRX-like domain, and a C-terminal ER-retention sequence. This protein inhibits the aggregation of misfolded proteins and exhibits both isomerase and chaperone activity. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2016]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak	T	A	19: 8,989,441 (GRCm39)	V3575E	probably damaging	Het
Arfgef3	G	A	10: 18,537,140 (GRCm39)		probably benign	Het
Arhgap23	A	G	11: 97,345,123 (GRCm39)	T631A	probably benign	Het
Chka	T	A	19: 3,942,112 (GRCm39)	H355Q	possibly damaging	Het
Ctsj	C	T	13: 61,149,214 (GRCm39)	A277T	probably damaging	Het
Ddx49	T	C	8: 70,753,668 (GRCm39)	D67G	probably damaging	Het
Dennd4b	T	C	3: 90,180,284 (GRCm39)	S716P	probably benign	Het
Enpp5	G	T	17: 44,393,766 (GRCm39)	D321Y	probably damaging	Het
Espl1	A	G	15: 102,205,253 (GRCm39)	E17G	probably benign	Het
Fam161b	G	A	12: 84,400,688 (GRCm39)	P428L	probably benign	Het
Fbxw7	T	C	3: 84,872,586 (GRCm39)	L256S	probably damaging	Het
Fgfr2	G	T	7: 129,830,525 (GRCm39)		probably null	Het
Foxred2	C	T	15: 77,831,362 (GRCm39)	V484I	probably benign	Het
Gm4744	T	A	6: 40,927,403 (GRCm39)		probably benign	Het
H3c1	C	T	13: 23,946,231 (GRCm39)	V36M	probably benign	Het
Hipk2	T	C	6: 38,795,456 (GRCm39)	N271S	possibly damaging	Het
Ifna1	A	G	4: 88,768,496 (GRCm39)	D58G	possibly damaging	Het
Igkv4-80	A	T	6: 68,993,680 (GRCm39)	Y70*	probably null	Het
Ivns1abp	G	A	1: 151,235,386 (GRCm39)	R218H	probably damaging	Het
Kng1	A	T	16: 22,898,595 (GRCm39)		probably benign	Het
Lars1	T	C	18: 42,390,234 (GRCm39)	D11G	probably damaging	Het
Lgals12	T	C	19: 7,578,607 (GRCm39)		probably benign	Het
Lpar4	T	A	X: 105,974,817 (GRCm39)	F334I	probably benign	Het
Muc5b	G	A	7: 141,416,968 (GRCm39)	G3305S	probably benign	Het
Nalcn	T	C	14: 123,555,291 (GRCm39)	D864G	probably benign	Het
Ndor1	T	C	2: 25,145,299 (GRCm39)	E22G	probably damaging	Het
Nt5c2	T	A	19: 46,912,749 (GRCm39)	M69L	probably benign	Het
Or52ab4	A	C	7: 102,987,636 (GRCm39)	Y125S	probably damaging	Het
Or8k22	T	C	2: 86,163,212 (GRCm39)	I163V	probably benign	Het
Pde12	A	T	14: 26,387,552 (GRCm39)	H455Q	probably damaging	Het
Pdk4	A	T	6: 5,491,671 (GRCm39)	I179K	possibly damaging	Het
Prl2c1	T	C	13: 28,041,480 (GRCm39)		probably benign	Het
Rasgrf2	C	T	13: 92,267,900 (GRCm39)	E35K	probably damaging	Het
Rnf123	G	A	9: 107,945,501 (GRCm39)	R390*	probably null	Het
Sash1	T	A	10: 8,620,299 (GRCm39)	M454L	probably benign	Het
Secisbp2	C	A	13: 51,832,942 (GRCm39)	T608K	possibly damaging	Het
Slco1a7	T	C	6: 141,668,836 (GRCm39)	Y532C	probably damaging	Het
Slmap	A	G	14: 26,143,586 (GRCm39)	V750A	possibly damaging	Het
Spaca6	T	A	17: 18,051,351 (GRCm39)	L9Q	probably damaging	Het
Sycp1	T	C	3: 102,786,080 (GRCm39)		probably benign	Het
Sycp2	A	T	2: 178,043,712 (GRCm39)	D131E	probably damaging	Het
Tc2n	A	T	12: 101,659,404 (GRCm39)	D176E	probably damaging	Het
Thoc7	T	C	14: 13,953,154 (GRCm38)	I83V	probably damaging	Het
Trank1	T	C	9: 111,202,143 (GRCm39)	V1590A	possibly damaging	Het
Tyrp1	T	C	4: 80,758,994 (GRCm39)	V289A	possibly damaging	Het
Ube2dnl1	T	A	X: 113,815,483 (GRCm39)	C119*	probably null	Het
Vmn1r191	T	A	13: 22,363,431 (GRCm39)	I108F	possibly damaging	Het
Zfp710	T	A	7: 79,731,789 (GRCm39)	I322N	probably damaging	Het

Other mutations in Pdia6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01313:Pdia6	APN	12	17,320,542 (GRCm39)	splice site	probably benign
IGL01686:Pdia6	APN	12	17,333,958 (GRCm39)	unclassified	probably benign
IGL01978:Pdia6	APN	12	17,324,423 (GRCm39)	missense	possibly damaging	0.82
IGL02044:Pdia6	APN	12	17,333,227 (GRCm39)	missense	probably damaging	0.98
IGL03102:Pdia6	APN	12	17,331,040 (GRCm39)	splice site	probably null
braum	UTSW	12	17,320,457 (GRCm39)	missense	probably damaging	1.00
R2126:Pdia6	UTSW	12	17,328,546 (GRCm39)	missense	probably damaging	1.00
R3037:Pdia6	UTSW	12	17,329,646 (GRCm39)	missense	probably damaging	1.00
R3768:Pdia6	UTSW	12	17,320,457 (GRCm39)	missense	probably damaging	1.00
R3769:Pdia6	UTSW	12	17,320,457 (GRCm39)	missense	probably damaging	1.00
R5639:Pdia6	UTSW	12	17,328,594 (GRCm39)	missense	probably benign
R6230:Pdia6	UTSW	12	17,327,214 (GRCm39)	missense	probably benign	0.08
R7305:Pdia6	UTSW	12	17,324,509 (GRCm39)	missense	probably benign	0.20
R7427:Pdia6	UTSW	12	17,328,546 (GRCm39)	missense	probably damaging	1.00
R7428:Pdia6	UTSW	12	17,328,546 (GRCm39)	missense	probably damaging	1.00
R8013:Pdia6	UTSW	12	17,323,966 (GRCm39)	missense	probably damaging	1.00
R8014:Pdia6	UTSW	12	17,323,966 (GRCm39)	missense	probably damaging	1.00
R8696:Pdia6	UTSW	12	17,329,662 (GRCm39)	missense	probably damaging	1.00
R8724:Pdia6	UTSW	12	17,333,982 (GRCm39)	missense	unknown
R9104:Pdia6	UTSW	12	17,320,492 (GRCm39)	missense	probably benign	0.45
R9509:Pdia6	UTSW	12	17,330,989 (GRCm39)	missense	probably damaging	0.99

Posted On

2015-04-16